CPT2D
MCID: MYP007
MIFTS: 27

Myopathy Due to Cpt Ii Deficiency (CPT2D) malady

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Myopathy Due to Cpt Ii Deficiency

Aliases & Descriptions for Myopathy Due to Cpt Ii Deficiency:

Name: Myopathy Due to Cpt Ii Deficiency 54 13
Carnitine Palmitoyltransferase 2 Deficiency, Myopathic, Stress-Induced 66 29
Carnitine Palmitoyl Transferase Deficiency Type 2, Adult-Onset Form 56
Carnitine Palmitoyl Transferase Deficiency Type 2, Myopathic Form 56
Carnitine Palmitoyl Transferase Ii Deficiency, Adult-Onset Form 56
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form 56
Carnitine Palmitoyltransferase Ii Deficiency, Adult-Onset 66
Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset 54
Carnitine Palmitoyltransferase 2 Deficiency, Late-Onset 66
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic 66
Cpt Ii Deficiency, Myopathic 66
Cpt2 Deficiency, Late-Onset 66
Cptii, Adult-Onset Form 56
Cpt2, Adult-Onset Form 56
Cptii, Myopathic Form 56
Cpt2, Myopathic Form 56
Cpt2d 66

Characteristics:

Orphanet epidemiological data:

56
carnitine palmitoyl transferase ii deficiency, myopathic form
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

HPO:

32
myopathy due to cpt ii deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 255110
Orphanet 56 ORPHA228302
ICD10 via Orphanet 34 E71.3
MedGen 40 C1833508
MeSH 42 D008661

Summaries for Myopathy Due to Cpt Ii Deficiency

UniProtKB/Swiss-Prot : 66 Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced: An autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation, characterized by recurrent myoglobinuria, episodes of muscle pain, stiffness, and rhabdomyolysis. These symptoms are exacerbated by prolonged exercise, fasting, cold, or viral infection. CPT2DM affects most frequently children or young adults, and severity of attacks is highly variable. Myoglobinuria can cause kidney failure and death.

MalaCards based summary : Myopathy Due to Cpt Ii Deficiency, also known as carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced, is related to carnitine palmitoyltransferase ii deficiency, and has symptoms including fatigue, myalgia and muscle weakness. An important gene associated with Myopathy Due to Cpt Ii Deficiency is CPT2 (Carnitine Palmitoyltransferase 2). Affiliated tissues include kidney.

OMIM : 54 Carnitine palmitoyltransferase II deficiency is the most common inherited disorder of mitochondrial long-chain fatty... (255110) more...

Related Diseases for Myopathy Due to Cpt Ii Deficiency

Diseases related to Myopathy Due to Cpt Ii Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 carnitine palmitoyltransferase ii deficiency 11.5

Symptoms & Phenotypes for Myopathy Due to Cpt Ii Deficiency

Symptoms by clinical synopsis from OMIM:

255110

Clinical features from OMIM:

255110

Human phenotypes related to Myopathy Due to Cpt Ii Deficiency:

56 32 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 56 32 Very frequent (99-80%) HP:0012378
2 myalgia 56 32 Very frequent (99-80%) HP:0003326
3 muscle weakness 56 32 Very frequent (99-80%) HP:0001324
4 renal insufficiency 56 32 Frequent (79-30%) HP:0000083
5 myopathy 56 32 Very frequent (99-80%) HP:0003198
6 elevated serum creatine phosphokinase 56 32 Very frequent (99-80%) HP:0003236
7 muscle cramps 32 HP:0003394
8 abnormality of the musculature 56 Very frequent (99-80%)
9 muscle stiffness 32 HP:0003552
10 rhabdomyolysis 32 HP:0003201
11 myoglobinuria 32 HP:0002913

UMLS symptoms related to Myopathy Due to Cpt Ii Deficiency:


muscle cramp, muscular stiffness, myalgia

Drugs & Therapeutics for Myopathy Due to Cpt Ii Deficiency

Search Clinical Trials , NIH Clinical Center for Myopathy Due to Cpt Ii Deficiency

Genetic Tests for Myopathy Due to Cpt Ii Deficiency

Genetic tests related to Myopathy Due to Cpt Ii Deficiency:

id Genetic test Affiliating Genes
1 Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced 29

Anatomical Context for Myopathy Due to Cpt Ii Deficiency

MalaCards organs/tissues related to Myopathy Due to Cpt Ii Deficiency:

39
Kidney

Publications for Myopathy Due to Cpt Ii Deficiency

Variations for Myopathy Due to Cpt Ii Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Myopathy Due to Cpt Ii Deficiency:

66 (show all 18)
id Symbol AA change Variation ID SNP ID
1 CPT2 p.Pro50His VAR_001391 rs28936674
2 CPT2 p.Ser113Leu VAR_001392 rs74315294
3 CPT2 p.Glu174Lys VAR_001393 rs28936674
4 CPT2 p.Phe383Tyr VAR_001396 rs28936673
5 CPT2 p.Asp553Asn VAR_001397 rs28936376
6 CPT2 p.Met214Thr VAR_007966 rs515726174
7 CPT2 p.Pro227Leu VAR_007967 rs74315298
8 CPT2 p.Phe448Leu VAR_007968 rs74315297
9 CPT2 p.Tyr479Phe VAR_007969 rs749895856
10 CPT2 p.Arg503Cys VAR_007970 rs74315296
11 CPT2 p.Gly549Asp VAR_007971 rs186044004
12 CPT2 p.Arg151Gln VAR_020540 rs515726177
13 CPT2 p.Tyr210Asp VAR_020541
14 CPT2 p.Arg296Gln VAR_020542 rs764849762
15 CPT2 p.Gln550Arg VAR_020543
16 CPT2 p.Gly600Arg VAR_020544
17 CPT2 p.Pro604Ser VAR_020545
18 CPT2 p.Asp213Gly VAR_037976 rs74315300

ClinVar genetic disease variations for Myopathy Due to Cpt Ii Deficiency:

6 (show all 28)
id Gene Variation Type Significance SNP ID Assembly Location
1 CPT2 NM_000098.2(CPT2): c.1891C> T (p.Arg631Cys) single nucleotide variant Pathogenic rs74315293 GRCh37 Chromosome 1, 53679181: 53679181
2 CPT2 NM_000098.2(CPT2): c.338C> T (p.Ser113Leu) single nucleotide variant Pathogenic rs74315294 GRCh37 Chromosome 1, 53668099: 53668099
3 CPT2 NM_000098.2(CPT2): c.149C> A (p.Pro50His) single nucleotide variant Pathogenic rs28936375 GRCh37 Chromosome 1, 53662764: 53662764
4 CPT2 NM_000098.2(CPT2): c.1657G> A (p.Asp553Asn) single nucleotide variant Pathogenic rs28936376 GRCh37 Chromosome 1, 53678947: 53678947
5 CPT2 NM_000098.2(CPT2): c.1883A> C (p.Tyr628Ser) single nucleotide variant Pathogenic rs28936673 GRCh37 Chromosome 1, 53679173: 53679173
6 CPT2 NM_000098.2(CPT2): c.1148T> A (p.Phe383Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs74315295 GRCh37 Chromosome 1, 53676494: 53676494
7 CPT2 NM_000098.2(CPT2): c.1507C> T (p.Arg503Cys) single nucleotide variant Pathogenic rs74315296 GRCh37 Chromosome 1, 53676853: 53676853
8 CPT2 NM_000098.2(CPT2): c.1360G> T (p.Glu454Ter) single nucleotide variant Pathogenic rs74315299 GRCh37 Chromosome 1, 53676706: 53676706
9 CPT2 NM_000098.2(CPT2): c.638A> G (p.Asp213Gly) single nucleotide variant Pathogenic rs74315300 GRCh37 Chromosome 1, 53675984: 53675984
10 CPT2 NM_000098.2(CPT2): c.359A> G (p.Tyr120Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918528 GRCh37 Chromosome 1, 53675705: 53675705
11 CPT2 NM_000098.2(CPT2): c.1239_1240delGA (p.Lys414Thrfs) deletion Pathogenic rs397509431 GRCh37 Chromosome 1, 53676585: 53676586
12 CPT2 NM_000098.2(CPT2): c.886C> T (p.Arg296Ter) single nucleotide variant Pathogenic/Likely pathogenic rs727503887 GRCh37 Chromosome 1, 53676232: 53676232
13 CPT2 NM_000098.2(CPT2): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201065226 GRCh37 Chromosome 1, 53675716: 53675716
14 CPT2 NM_000098.2(CPT2): c.54_72dup19 (p.Leu25Glyfs) duplication Likely pathogenic rs1057517510 GRCh38 Chromosome 1, 53196997: 53197015
15 CPT2 NM_000098.2(CPT2): c.75delC (p.Ser26Alafs) deletion Likely pathogenic rs1057517493 GRCh38 Chromosome 1, 53197018: 53197018
16 CPT2 NM_000098.2(CPT2): c.95delG (p.Gly32Alafs) deletion Likely pathogenic rs1057517494 GRCh38 Chromosome 1, 53197038: 53197038
17 CPT2 NM_000098.2(CPT2): c.110_111dupGC (p.Ser38Alafs) duplication Likely pathogenic rs1057517466 GRCh38 Chromosome 1, 53197053: 53197054
18 CPT2 NM_000098.2(CPT2): c.606T> A (p.Tyr202Ter) single nucleotide variant Likely pathogenic rs755830520 GRCh38 Chromosome 1, 53210280: 53210280
19 CPT2 NM_000098.2(CPT2): c.1046dupA (p.Asn349Lysfs) duplication Likely pathogenic rs1057517515 GRCh38 Chromosome 1, 53210720: 53210720
20 CPT2 NM_000098.2(CPT2): c.1053G> A (p.Trp351Ter) single nucleotide variant Likely pathogenic rs761438840 GRCh38 Chromosome 1, 53210727: 53210727
21 CPT2 NM_000098.2(CPT2): c.1345C> T (p.Gln449Ter) single nucleotide variant Likely pathogenic rs1057517492 GRCh38 Chromosome 1, 53211019: 53211019
22 CPT2 NM_000098.2(CPT2): c.1345delCinsTA (p.Gln449Terfs) indel Likely pathogenic rs1057517525 GRCh37 Chromosome 1, 53676691: 53676691
23 CPT2 NM_000098.2(CPT2): c.1359_1362delAGAA (p.Lys453Asnfs) deletion Likely pathogenic rs1057517507 GRCh37 Chromosome 1, 53676705: 53676708
24 CPT2 NM_000098.2(CPT2): c.1414C> T (p.Gln472Ter) single nucleotide variant Likely pathogenic rs754386565 GRCh37 Chromosome 1, 53676760: 53676760
25 CPT2 NM_000098.2(CPT2): c.1545_1548delCTTT (p.Phe516Serfs) deletion Likely pathogenic rs1057517477 GRCh38 Chromosome 1, 53211219: 53211222
26 CPT2 NM_000098.2(CPT2): c.1614C> A (p.Tyr538Ter) single nucleotide variant Likely pathogenic rs1057517517 GRCh38 Chromosome 1, 53211288: 53211288
27 CPT2 NM_000098.2(CPT2): c.1645+2T> G single nucleotide variant Likely pathogenic rs1057517473 GRCh38 Chromosome 1, 53211321: 53211321
28 CPT2 NM_000098.2(CPT2): c.1774_1775delCT (p.Leu592Glufs) deletion Likely pathogenic rs767004984 GRCh38 Chromosome 1, 53213392: 53213393

Expression for Myopathy Due to Cpt Ii Deficiency

Search GEO for disease gene expression data for Myopathy Due to Cpt Ii Deficiency.

Pathways for Myopathy Due to Cpt Ii Deficiency

GO Terms for Myopathy Due to Cpt Ii Deficiency

Sources for Myopathy Due to Cpt Ii Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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